combined oxidative phosphorylation deficiency 6 (DOID:0111502)
Alliance: disease page
Synonyms: COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; Mitochondrial encephalomyopathy due to COXPD6; severe X-linked mitochondrial encephalomyopathy
Alt IDs: OMIM:300816, ORDO:238329
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.